Tsc1-Flox

Nomenclature

C57BL/6Smoc-Tsc1tm1(flox)Smoc

Cat. NO.

NM-CKO-200231

Strain State

Sperm cryopreservation

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Gene Summary

Gene Symbol
Tsc1

Synonyms

-

NCBI ID

64930

MGI ID

1929183

Ensembl ID

ENSMUSG00000026812

Pubmed

Tsc1

Human Ortholog

TSC1

Model Description

在Tsc1基因exon 17-18两侧分别插入loxP位点，建立Tsc1基因条件性敲除小鼠模型。
Research Application：mTOR信号传导和呼吸电子运输，化学渗透耦合产生的ATP合成以及蛋白质解偶联产生的热量相关研究

Disease Connection

结节性硬化症
Tuberous Sclerosis

Phenotype(s)

MGI:3588988
Note：该品系与Myl2-Cre工具鼠交配才可能获得预期表型

Reference(s)

Meikle L, McMullen JR, Sherwood MC, Lader AS, Walker V, Chan JA, Kwiatkowski DJ, A mouse model of cardiac rhabdomyoma generated by loss of Tsc1 in ventricular myocytes. Hum Mol Genet. 2005 Feb 1;14(3):429-35

结节性硬化症
Tuberous Sclerosis

Phenotype(s)

MGI:3802545
Note：该品系与Syn1-cre工具鼠交配才可能获得预期表型

Reference(s)

Meikle L, Pollizzi K, Egnor A, Kramvis I, Lane H, Sahin M, Kwiatkowski DJ, Response of a neuronal model of tuberous sclerosis to mammalian target of rapamycin (mTOR) inhibitors: effects on mTORC1 and Akt signaling lead to improved survival and function. J Neurosci. 2008 May 21;28(21):5422-32

结节性硬化症
Tuberous Sclerosis

Phenotype(s)

MGI:3802584
Note：该品系与GFAP-cre工具鼠交配才可能获得预期表型

Reference(s)

Zeng LH, Ouyang Y, Gazit V, Cirrito JR, Jansen LA, Ess KC, Yamada KA, Wozniak DF, Holtzman DM, Gutmann DH, Wong M, Abnormal glutamate homeostasis and impaired synaptic plasticity and learning in a mouse model of tuberous sclerosis complex. Neurobiol Dis. 2007 Nov;28(2):184-96

眼前节发育不全
Anterior Segment Dysgenesis

Phenotype(s)

MGI:6295837
Note：该品系与Lhx2-cre工具鼠交配才可能获得预期表型

Reference(s)

Hagglund AC, Jones I, Carlsson L, A novel mouse model of anterior segment dysgenesis (ASD): conditional deletion of Tsc1 disrupts ciliary body and iris development. Dis Model Mech. 2017 Mar 01;10(3):245-257

自闭症谱系障碍
Autism Spectrum Disorder

Phenotype(s)

MGI:5641483
Note：该品系与Pcp2-cre工具鼠交配才可能获得预期表型

Reference(s)

Tsai PT, Hull C, Chu Y, Greene-Colozzi E, Sadowski AR, Leech JM, Steinberg J, Crawley JN, Regehr WG, Sahin M, Autistic-like behaviour and cerebellar dysfunction in Purkinje cell Tsc1 mutant mice. Nature. 2012 Aug 30;488(7413):647-51

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